Abstract：
:Kennedy's disease (KD) or spinobulbar muscular atrophy is a hereditary X-linked, progressive neurodegenerative condition caused by an expansion of the CAG triplet repeat in the first exon of the androgen receptor gene. The phenotype in its full form is only expressed in males and presents as weakness and wasting of the upper and lower limbs and bulbar muscles associated with absent reflexes. Sensory disturbances are present. Various endocrine abnormalities including decreased fertility and gynecomastia are common and amongst the first features of KD. Animal models of KD have demonstrated improvement on withdrawal of testosterone, indicating that this agonist of the androgen receptor is required for the toxic effect. Potential therapies based on testosterone withdrawal in humans have shown some promise, but efficacy remains to be proven. Potential clinical factors, pathogenesis and future approaches to therapy are reviewed in this chapter.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Zajac JD,Fui MNsubject
Has Abstractpub_date
2012-01-01 00:00:00pages
153-68eissn
0065-2598issn
2214-8019journal_volume
769pub_type
杂志文章,评审abstract：:Our knowledge of plant sphingolipid metabolism and function has significantly increased over the past years. This applies mainly to the identification and the functional characterization of genes and enzymes involved in sphingolipid biosynthesis. In addition a number of plant mutants have provided new insights into sp...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4419-6741-1_18
更新日期：2010-01-01 00:00:00
abstract：:Machado-Joseph disease (MJD), also known as Spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant inheritable neurodegenerative disorder. After a long pre-symptomatic period, this late-onset disease progressively disables patients and typically leads to premature death. Neuronal loss in specific regions of th...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-38266-7_10
更新日期：2020-01-01 00:00:00
abstract：:The two major modalities of pharmacomechanical coupling, inositol 1,4,5, trisphosphate induced Ca2+ release and modulation of Ca(2+)-sensitivity, are reviewed. Recent studies show that although changes in cytoplasmic Ca2+ play the major role in regulating smooth muscle contraction, agonists can also significantly affe...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-2946-0_4
更新日期：1993-01-01 00:00:00
abstract：:Previously three imaging methods, dynamic contrast enhanced magnetic resonance imaging (DCE-MRI), T(1ρ )-MRI, and low temperature NADH/Fp (reduced nicotinamide adenine dinucleotide/oxidized flavoprotein) fluorescence imaging (redox scanning)were reported to differentiate the mouse xenografts of a less metastatic human...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4419-7756-4_19
更新日期：2011-01-01 00:00:00
abstract：:Myeloproliferative neoplasms (MPNs) include Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) and the Ph- diseases primary myelofibrosis (PMF), polycythemia vera (PV) and essential thrombocythemia (ET). Since FDA approval of imatinib in 2001, CML treatment has been focused on tyrosine kinase inhibi...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4614-6176-0_8
更新日期：2013-01-01 00:00:00
abstract：:Stimulator of interferon (IFN) genes (STING) is a key mediator in the immune response to cytoplasmic DNA sensed by cyclic GMP-AMP (cGAMP) synthase (cGAS). After synthesis by cGAS, cGAMP acts as a second messenger activating STING in the cell harboring cytoplasmic DNA but also in adjacent cells through gap junction tra...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-5987-2_8
更新日期：2017-01-01 00:00:00
abstract：:Cyclic variations in calcium (Ca(2+)) concentrations, through a process called excitation-contraction coupling, allow regulation of vascular smooth muscle cells contractility and thus modulation of vascular tone and blood pressure. As a second messenger, Ca(2+) also activates signaling cascades leading to transcriptio...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-94-007-2888-2_35
更新日期：2012-01-01 00:00:00
abstract：:Although prevalence estimates are imprecise, growing numbers of women in the United States are living longer with metastatic breast cancer, attributable at least in part to the availability of effective targeted therapies. Women living with metastatic disease are understudied, however, and substantial heterogeneity ex...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-16366-6_16
更新日期：2015-01-01 00:00:00
abstract：:The effect of compression on the elementary steps of the cross-bridge cycle was investigated with the sinusoidal analysis technique and ATP hydrolysis rate measurement. The lattice spacing of rabbit psoas muscle fibers was osmotically compressed with a macromolecule, dextran T-500 (0-16%). The effects of MgATP, MgADP,...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-2872-2_52
更新日期：1993-01-01 00:00:00
abstract：:The stage and tissue specific expression of milk protein genes in the mammary gland is controlled by modular response regions with multiple binding sites for distinct classes of transcription factors, which either co-operate or are antagonistic. In addition, the activity of some of these factors is individually contro...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/0-306-46832-8_17
更新日期：2000-01-01 00:00:00
abstract：:The increased Ca(2+)-responsiveness in end-stage human heart failure cannot be attributed to contractile protein isoform changes, but rather is the complex resultant of changes in degree of phosphorylation of VLC-2 and TnI. Despite the decreased basal level of VLC-2 phosphorylation the response to VLC-2 dephosphorylat...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4419-9029-7_1
更新日期：2003-01-01 00:00:00
abstract：:Supplementation of diets with free amino acids has not routinely been beneficial and poses a potential risk. Thus, mixing proteins to increase the quality of the dietary protein is attractive. The slope-ratio technique for evaluation of protein quality has serious drawbacks, because the growth response is not linear a...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-3366-1_20
更新日期：1978-01-01 00:00:00
abstract：:Humans with mutations in the phototransduction pathway develop forms of retinal degeneration, such as retinitis pigmentosa, cone dystrophy, or Leber congenital amaurosis. Similarly, numerous phototransduction mutant animal models resemble retinal degeneration. In our lab, using a zebrafish model, we study cone-specifi...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-75402-4_40
更新日期：2018-01-01 00:00:00
abstract：:Mitochondria Na(+)-Ca(2+) exchange (NCX(mit)) was first discovered by Carafoli et al. in 1974. Thereafter, the mechanisms and roles of NCX(mit) have been extensively studied. We review NCX(mit) in cardiomyocytes and lymphocytes by presenting our recent studies on it. Studies of NCX(mit) in rat ventricular cells demons...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4614-4756-6_16
更新日期：2013-01-01 00:00:00
abstract：:The subunit structure of the B-cell antigen receptor (BCR) and its associated compartmentalization of function confer enormous flexibility for generating signals and directing these toward specific and divergent cell fate decisions. Like all the multichain immune recognition receptors discussed in this volume, assembl...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-09789-3_2
更新日期：2008-01-01 00:00:00
abstract：:In this chapter, we intend to review gene therapy concepts applied to the potential treatment of tyrosinemia for parents and pediatricians. Therefore, our main objective is to give general informations in a comprehensible manner. Considering the nature of tyrosinemia and the current state of technology, a particular f...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-55780-9_21
更新日期：2017-01-01 00:00:00
abstract：:The results of these studies suggest that halothane, in addition to its effect of reducing the trans-sarcolemmal Ca2+ influx, has a direct effect on the function of the sarcoplasmic reticulum by making the organelle leaky to Ca2+ and reducing the amount of Ca2+ stored. Isoflurane, on the other hand, does not appear to...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-5979-1_11
更新日期：1991-01-01 00:00:00
abstract：:Human genetic factors play an important role in determining the outcome of infections caused by intracellular pathogens, including mycobacteria and salmonellae (reviewed in 1). The genetic elements involved and the mechanisms by which these control disease-susceptibility versus resistance, however, remain incompletely...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4615-0059-9_24
更新日期：2003-01-01 00:00:00
abstract：:We start by describing the functions of the uterus, its structure, both gross and fine, innervation and blood supply. It is interesting to note the diversity of the female's reproductive tract between species and to remember it when working with different animal models. Myocytes are the overwhelming cell type of the u...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-13-5895-1_10
更新日期：2019-01-01 00:00:00
abstract：:Spinal and Bulbar Muscular Atrophy (SBMA) is an inherited neuromuscular disorder caused by a CAG-polyglutamine (polyQ) repeat expansion in the androgen receptor (AR) gene. Unlike other polyQ diseases, where the function of the native causative protein is unknown, the biology of AR is well understood, and this knowledg...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-71779-1_5
更新日期：2018-01-01 00:00:00
abstract：:Slit guidance ligands (Slits) and their roundabout (Robo) family of receptors are well-known axon guidance molecules that were originally identified in Drosophila mutants with commissural axon pathfinding defects. However, Slit-Robo signaling has been shown to be involved in not only neurogenesis, but also the develop...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/5584_2020_586
更新日期：2020-09-29 00:00:00
abstract：:Biological samples of human and animal origin are utilized in research for many purposes and in a variety of scientific fields, including mass spectrometry-based proteomics. Various types of samples, including organs, tissues, cells, body fluids such as blood, plasma, cerebrospinal fluid, saliva and semen, can be coll...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-41448-5_1
更新日期：2016-01-01 00:00:00
abstract：:In cerebral ischemia, measurement of cerebral blood flow (CBF) alone is not a sensitive or specific predictor of tissue survival. Measurements of oxygen metabolism, which are directly related to cellular energy metabolism, are better predictors of tissue survival and the best of these is the "oxygen extraction fractio...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4419-7756-4_29
更新日期：2011-01-01 00:00:00
abstract：:Neural circuit function is determined not only by anatomical connections but also by the strength and nature of the connections, that is functional or physiological connectivity. To elucidate functional connectivity, selective stimulation of presynaptic terminals of an identified neuronal population is crucial. Howeve...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-981-15-8763-4_27
更新日期：2021-01-01 00:00:00
abstract：:This chapter represents a novel view of modeling in hematopoiesis, synthesizing both deterministic and stochastic approaches. Whereas the stochastic models work in situations where chance dominates, for example when the number of cells is small, or under random mutations, the deterministic models are more important fo...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4939-2095-2_7
更新日期：2014-01-01 00:00:00
abstract：:The unsatisfactory results of current anti-cancer therapies require the active search for new drugs, new treatment strategies and a deeper understanding of the host-tumour relationship. From this point of view, the drugs with a capacity to substitute the functions of altered tumour suppressor genes are of prominent in...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：
更新日期：1999-01-01 00:00:00
abstract：:Replacement of the single cysteine residue (C192) with serine in the Streptococcus pyogenes extracellular cysteine protease (SCP) prevented auto-catalytic processing of the 40-kDa zymogen to the 28-kDa mature form and eliminated proteolytic activity. SCP incubated with human endothelial cells induced a time- and conce...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4899-1825-3_136
更新日期：1997-01-01 00:00:00
abstract：:Hypoxic pulmonary vasoconstriction (HPV) is an important mechanism by which localized flow of blood in small resistance pulmonary arteries is matched to alveolar ventilation. This chapter discusses the role of several potassium and calcium channels in HPV, both in enhancing calcium influx into smooth muscle cells (SMC...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-60761-500-2_1
更新日期：2010-01-01 00:00:00
abstract：:Decellularized organs and tissues are effectively utilized in a diversity of regenerative medicine purposes, and the decellularization approaches employed differ as broadly as the tissues/organs of concern. Biological scaffold substances formed by extracellular matrix (ECM) are mostly produced with methods that includ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/5584_2019_338
更新日期：2020-01-01 00:00:00
abstract：:Foxp subfamily genes were recently recognized to be members of the Fox gene family. Foxp subfamily members contain a zinc finger domain and a leucine zipper motif in addition to a forkhead domain and their DNA binding capacities and transcriptional activities are regulated by homo- and heterodimerization via a zinc fi...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4419-1599-3_9
更新日期：2009-01-01 00:00:00
